Associated Papers
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
Bruha R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G et al.
Clinical Genetics, 2005
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S et al.
Molecular Genetics and Metabolism, 0
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